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Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.
Klouwer, Femke C C; Ferdinandusse, Sacha; van Lenthe, Henk; Kulik, Wim; Wanders, Ronald J A; Poll-The, Bwee Tien; Waterham, Hans R; Vaz, Frédéric M.
Afiliação
  • Klouwer FCC; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
  • Ferdinandusse S; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • van Lenthe H; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
  • Kulik W; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
  • Wanders RJA; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
  • Poll-The BT; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
  • Waterham HR; Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Vaz FM; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
J Inherit Metab Dis ; 40(6): 875-881, 2017 11.
Article em En | MEDLINE | ID: mdl-28677031

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Lisofosfatidilcolinas / Biomarcadores / Carnitina / Síndrome de Zellweger Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Lisofosfatidilcolinas / Biomarcadores / Carnitina / Síndrome de Zellweger Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article